LTBP4 (latent transforming growth factor beta binding protein 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8425
Gene name Gene Name - the full gene name approved by the HGNC.
Latent transforming growth factor beta binding protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LTBP4
Synonyms (NCBI Gene) Gene synonyms aliases
ARCL1C, LTBP-4, LTBP4L, LTBP4S
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other pro
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
SNP ID Visualize variation Clinical significance Consequence
rs199678003 C>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs199887429 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs200036888 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs200338042 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs267607228 C>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT017571 hsa-miR-335-5p Microarray 18185580
MIRT440306 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440306 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1122176 hsa-miR-3163 CLIP-seq
MIRT1122177 hsa-miR-340 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
E2F4 Unknown 23741501
GATA1 Unknown 23741501
SMAD3 Unknown 23741501
SP1 Unknown 23741501
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IEA
GO:0001527 Component Microfibril ISS
GO:0001558 Process Regulation of cell growth TAS 9660815
GO:0005024 Function Transforming growth factor beta receptor activity NAS 9660815
GO:0005178 Function Integrin binding NAS 9660815
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604710 6717 ENSG00000090006
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8N2S1
Protein name Latent-transforming growth factor beta-binding protein 4 (LTBP-4)
Protein function Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 357 → 396 Calcium-binding EGF domain Domain
PF00683 TB 417 → 462 TB domain Family
PF12661 hEGF 556 → 576 Human growth factor-like EGF Domain
PF07645 EGF_CA 587 → 627 Calcium-binding EGF domain Domain
PF12662 cEGF 651 → 674 Complement Clr-like EGF-like Domain
PF12661 hEGF 682 → 702 Human growth factor-like EGF Domain
PF07645 EGF_CA 710 → 750 Calcium-binding EGF domain Domain
PF07645 EGF_CA 752 → 792 Calcium-binding EGF domain Domain
PF07645 EGF_CA 834 → 876 Calcium-binding EGF domain Domain
PF07645 EGF_CA 878 → 918 Calcium-binding EGF domain Domain
PF07645 EGF_CA 920 → 959 Calcium-binding EGF domain Domain
PF07645 EGF_CA 961 → 1003 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1005 → 1047 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1049 → 1089 Calcium-binding EGF domain Domain
PF00683 TB 1192 → 1238 TB domain Family
PF07645 EGF_CA 1253 → 1294 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1296 → 1336 Calcium-binding EGF domain Domain
PF00683 TB 1360 → 1404 TB domain Family
PF07645 EGF_CA 1574 → 1617 Calcium-binding EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. {ECO:0000269|PubMed:9271198, ECO:0000269|PubMed:9660815}.
Sequence 
MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQT
SRRSRCIRAFCRVRSCQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARA
LLKRRRPRGPGGRGLLRRRPPQRAPAGKAPVLCPLICHNGGVCVKPDRCLCPPDFAGKFC
QLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVEHPQEASVVVHQVERV
SGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECAS
PLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDE
CATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSL
PILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLG
QEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIP
ESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAP
GRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGY
QAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEEDVDECAQEPPP
CGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCENTEGSFQCVCP
MGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDVDECSS
GAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGS
FACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCL
DVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQ
RCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNRSFCGAHAVCQNLPGSFQCLCDQGY
EGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEFDPMTGRCVPPRTSAG
TFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAPDACDNILARN
VTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLF
RDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYH
CTCEPPLVLDGSQRRCVSNESQSLDDNLGVCWQEVGADLVCSHPRLDRQATYTECCCLYG
EAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRPGGFGLPYEYGPDLGPPYQGLPYGPE
LYPPPALPYDPYPPPPGPFARREAPYGAPRFDMPDFEDDGGPYGESEAPAPPGPGTRWPY
RSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGILDGCTNGRCVRVPEGFTCRCF
DGYRLDMTRMACVDINECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPA
RPRA
Sequence length 1624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Molecules associated with elastic fibres
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies rs797044471, rs1382026467, rs747013505, rs1568406407, rs1599879104, rs606231159, rs606231160, rs267607228, rs267607229, rs606231161, rs397515430 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cutis Laxa Cutis Laxa Syndrome N/A N/A ClinVar
Glioblastoma Glioblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 23741501
Androgen Insensitivity Syndrome Associate 25313366
Aneurysm Associate 38293922
Aortic Stenosis Supravalvular Associate 38293922
Bicuspid Aortic Valve Disease Associate 27298013, 38293922
Breast Neoplasms Associate 21527583
Carcinoma Squamous Cell Inhibit 23741501
Cardiomyopathy Dilated Associate 26513582, 26918958
Colorectal Neoplasms Associate 20459617
Conversion Disorder Associate 16456143